V48L (p.Val48Leu) variant of SMC3 (Q9UQE7)
V48L (p.Val48Leu) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V48L (p.Val48Leu) variant details
- p.Val48Leu
- gnomAD rs1176119437
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 24.50
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available